Abstract
Mutations in proteins responsible for ion transport in cardiac tissue can induce a destabilization of electrical function and provoke cardiac sudden death. Identification of a genetic anomaly in a French family that developed the syndrome of cardiac sudden death has revealed a crucial new element in normal cardiac electrical function : Ion channels need to be anchored to specific domains at the plasma membrane by an anchoring protein called ankyrin-B.
MeSH terms
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Action Potentials
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Animals
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Ankyrin Repeat
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Ankyrins / chemistry
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Ankyrins / deficiency*
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Ankyrins / genetics
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Ankyrins / physiology
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Arrhythmias, Cardiac / etiology
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Arrhythmias, Cardiac / genetics*
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Arrhythmias, Cardiac / physiopathology
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Calcium / physiology
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Death, Sudden, Cardiac / etiology*
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Electrocardiography
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Heart Conduction System / physiopathology
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Humans
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Ion Channels / genetics
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Ion Channels / physiology
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Ion Transport / genetics
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Long QT Syndrome / genetics
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Long QT Syndrome / physiopathology
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Mice
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Mice, Knockout
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Models, Biological
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Sodium / physiology
Substances
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ANK2 protein, human
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Ank2 protein, mouse
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Ankyrins
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Ion Channels
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Sodium
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Calcium